Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03128:Tbc1d9'

410232

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d9

Ensembl Gene

ENSMUSG00000031709

Gene Name

TBC1 domain family, member 9

Synonyms

C76116, 4933431N12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

IGL03128

Quality Score

Status

Chromosome

Chromosomal Location

83891981-83999563 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83892714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 4 (N4S)

Ref Sequence

ENSEMBL: ENSMUSP00000091093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034145] [ENSMUST00000093393] [ENSMUST00000098605]

AlphaFold

Q3UYK3

Predicted Effect

probably benign
Transcript: ENSMUST00000034145
AA Change: N4S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: N4S

Domain	Start	End	E-Value	Type
low complexity region	31	55	N/A	INTRINSIC
low complexity region	192	208	N/A	INTRINSIC
TBC	279	492	8.68e-56	SMART
Blast:TBC	500	587	5e-35	BLAST
PDB:1BJF\|B	579	703	3e-7	PDB
low complexity region	917	937	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093393
AA Change: N4S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: N4S

Domain	Start	End	E-Value	Type
low complexity region	31	55	N/A	INTRINSIC
GRAM	146	213	1.2e-25	SMART
low complexity region	267	278	N/A	INTRINSIC
GRAM	293	361	1.37e-20	SMART
low complexity region	425	441	N/A	INTRINSIC
TBC	512	725	8.68e-56	SMART
Blast:TBC	733	820	6e-35	BLAST
PDB:1BJF\|B	812	936	4e-7	PDB
low complexity region	1150	1170	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098605

SMART Domains

Protein: ENSMUSP00000096205
Gene: ENSMUSG00000074228

Domain	Start	End	E-Value	Type
low complexity region	69	85	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(5) : Targeted, other(2) Gene trapped(3)

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	A	T	11: 116,072,829 (GRCm39)	L114M	probably damaging	Het
Bahcc1	G	A	11: 120,159,260 (GRCm39)		probably benign	Het
Btrc	T	A	19: 45,501,959 (GRCm39)	I226N	probably damaging	Het
Cth	C	T	3: 157,626,672 (GRCm39)	G56D	probably damaging	Het
Dkk2	T	C	3: 131,883,621 (GRCm39)		probably benign	Het
Dock3	A	T	9: 106,909,491 (GRCm39)	M271K	probably benign	Het
Fam78b	T	A	1: 166,906,510 (GRCm39)	L223Q	probably damaging	Het
Fgl2	A	T	5: 21,578,291 (GRCm39)	M193L	probably benign	Het
Ifi205	A	T	1: 173,842,652 (GRCm39)	V348E	probably damaging	Het
Igkv4-70	T	A	6: 69,244,998 (GRCm39)	K74N	probably benign	Het
Kdm3b	A	T	18: 34,960,480 (GRCm39)	K1355M	probably damaging	Het
Ltn1	A	T	16: 87,212,832 (GRCm39)	N576K	probably benign	Het
Ms4a4c	A	T	19: 11,395,005 (GRCm39)		probably null	Het
Nfic	T	C	10: 81,242,025 (GRCm39)	T328A	probably benign	Het
Npat	T	A	9: 53,461,333 (GRCm39)		probably benign	Het
Nxpe2	T	C	9: 48,230,798 (GRCm39)	I524V	probably benign	Het
Orc5	G	T	5: 22,721,771 (GRCm39)	D360E	probably damaging	Het
Pappa2	C	T	1: 158,764,054 (GRCm39)	E486K	probably benign	Het
Pde9a	C	T	17: 31,678,884 (GRCm39)	H216Y	possibly damaging	Het
Polr2k	C	A	15: 36,174,337 (GRCm39)	P31Q	probably damaging	Het
Prkdc	G	T	16: 15,518,608 (GRCm39)		probably benign	Het
Raver1	A	T	9: 20,992,038 (GRCm39)	L385Q	probably damaging	Het
Slc10a7	C	A	8: 79,251,846 (GRCm39)	T80K	probably damaging	Het
Smg1	T	C	7: 117,802,282 (GRCm39)	K272R	probably benign	Het
Supt20	A	G	3: 54,615,708 (GRCm39)	I200V	probably benign	Het
Tor1aip1	A	G	1: 155,882,781 (GRCm39)	S356P	probably damaging	Het
Trpm3	A	G	19: 22,891,829 (GRCm39)	Y903C	probably damaging	Het
Vmn2r71	T	G	7: 85,268,795 (GRCm39)	F333V	probably damaging	Het

Other mutations in Tbc1d9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Tbc1d9	APN	8	83,960,791 (GRCm39)	missense	probably damaging	1.00
IGL01443:Tbc1d9	APN	8	83,966,560 (GRCm39)	missense	probably damaging	1.00
IGL01536:Tbc1d9	APN	8	83,987,621 (GRCm39)	missense	probably damaging	1.00
IGL01811:Tbc1d9	APN	8	83,960,307 (GRCm39)	missense	probably damaging	1.00
IGL02068:Tbc1d9	APN	8	83,966,497 (GRCm39)	missense	probably damaging	1.00
IGL02938:Tbc1d9	APN	8	83,995,696 (GRCm39)	splice site	probably benign
IGL02995:Tbc1d9	APN	8	83,995,688 (GRCm39)	critical splice donor site	probably null
IGL03127:Tbc1d9	APN	8	83,976,102 (GRCm39)	missense	probably damaging	1.00
H9600:Tbc1d9	UTSW	8	83,937,090 (GRCm39)	missense	probably damaging	1.00
R0067:Tbc1d9	UTSW	8	83,960,872 (GRCm39)	missense	probably damaging	1.00
R0067:Tbc1d9	UTSW	8	83,960,872 (GRCm39)	missense	probably damaging	1.00
R0112:Tbc1d9	UTSW	8	83,991,466 (GRCm39)	splice site	probably benign
R0525:Tbc1d9	UTSW	8	83,995,614 (GRCm39)	missense	probably benign	0.08
R0528:Tbc1d9	UTSW	8	83,937,085 (GRCm39)	missense	probably damaging	1.00
R0737:Tbc1d9	UTSW	8	83,985,942 (GRCm39)	missense	probably damaging	1.00
R1144:Tbc1d9	UTSW	8	83,963,200 (GRCm39)	missense	possibly damaging	0.93
R1354:Tbc1d9	UTSW	8	83,995,610 (GRCm39)	critical splice acceptor site	probably null
R1551:Tbc1d9	UTSW	8	83,992,787 (GRCm39)	missense	probably benign	0.03
R1620:Tbc1d9	UTSW	8	83,976,224 (GRCm39)	missense	probably damaging	1.00
R1971:Tbc1d9	UTSW	8	83,976,139 (GRCm39)	missense	probably damaging	1.00
R1990:Tbc1d9	UTSW	8	83,997,932 (GRCm39)	missense	probably damaging	1.00
R2082:Tbc1d9	UTSW	8	83,997,616 (GRCm39)	missense	probably damaging	1.00
R2149:Tbc1d9	UTSW	8	83,998,078 (GRCm39)	missense	probably damaging	1.00
R2442:Tbc1d9	UTSW	8	83,892,705 (GRCm39)	start codon destroyed	probably null	0.08
R2920:Tbc1d9	UTSW	8	83,937,098 (GRCm39)	missense	probably benign	0.00
R3832:Tbc1d9	UTSW	8	83,960,292 (GRCm39)	missense	probably damaging	1.00
R3953:Tbc1d9	UTSW	8	83,960,161 (GRCm39)	missense	probably damaging	1.00
R3955:Tbc1d9	UTSW	8	83,960,161 (GRCm39)	missense	probably damaging	1.00
R3956:Tbc1d9	UTSW	8	83,960,161 (GRCm39)	missense	probably damaging	1.00
R3957:Tbc1d9	UTSW	8	83,960,161 (GRCm39)	missense	probably damaging	1.00
R4117:Tbc1d9	UTSW	8	83,992,776 (GRCm39)	missense	possibly damaging	0.93
R4467:Tbc1d9	UTSW	8	83,937,107 (GRCm39)	missense	probably damaging	1.00
R4533:Tbc1d9	UTSW	8	83,997,547 (GRCm39)	missense	probably damaging	1.00
R4568:Tbc1d9	UTSW	8	83,997,806 (GRCm39)	missense	probably benign	0.00
R4694:Tbc1d9	UTSW	8	83,960,875 (GRCm39)	missense	probably damaging	1.00
R4804:Tbc1d9	UTSW	8	83,982,554 (GRCm39)	critical splice donor site	probably null
R5056:Tbc1d9	UTSW	8	83,995,835 (GRCm39)	missense	probably benign
R5073:Tbc1d9	UTSW	8	83,960,176 (GRCm39)	missense	probably damaging	1.00
R5122:Tbc1d9	UTSW	8	83,963,172 (GRCm39)	missense	probably damaging	0.98
R5270:Tbc1d9	UTSW	8	83,960,283 (GRCm39)	missense	probably benign
R5618:Tbc1d9	UTSW	8	83,969,221 (GRCm39)	missense	probably damaging	1.00
R5738:Tbc1d9	UTSW	8	83,997,655 (GRCm39)	missense	probably benign
R5793:Tbc1d9	UTSW	8	83,998,069 (GRCm39)	missense	probably damaging	0.96
R5908:Tbc1d9	UTSW	8	83,976,174 (GRCm39)	missense	probably benign	0.05
R6258:Tbc1d9	UTSW	8	83,937,145 (GRCm39)	missense	probably damaging	1.00
R6584:Tbc1d9	UTSW	8	83,987,629 (GRCm39)	missense	probably damaging	0.98
R6888:Tbc1d9	UTSW	8	83,998,217 (GRCm39)	missense	possibly damaging	0.92
R6897:Tbc1d9	UTSW	8	83,892,809 (GRCm39)	missense	probably damaging	1.00
R6969:Tbc1d9	UTSW	8	83,968,171 (GRCm39)	missense	probably damaging	0.99
R7026:Tbc1d9	UTSW	8	83,968,192 (GRCm39)	missense	probably benign	0.06
R7072:Tbc1d9	UTSW	8	83,991,494 (GRCm39)	missense	probably damaging	0.97
R7099:Tbc1d9	UTSW	8	83,981,520 (GRCm39)	missense	probably damaging	1.00
R7138:Tbc1d9	UTSW	8	83,937,113 (GRCm39)	missense	probably damaging	1.00
R7172:Tbc1d9	UTSW	8	83,981,390 (GRCm39)	missense	probably damaging	0.96
R7267:Tbc1d9	UTSW	8	83,997,957 (GRCm39)	missense	probably damaging	1.00
R7371:Tbc1d9	UTSW	8	83,997,890 (GRCm39)	missense	probably damaging	0.96
R7457:Tbc1d9	UTSW	8	83,963,309 (GRCm39)	missense	probably damaging	0.99
R7552:Tbc1d9	UTSW	8	83,966,560 (GRCm39)	missense	probably damaging	1.00
R7645:Tbc1d9	UTSW	8	83,969,182 (GRCm39)	missense	probably damaging	1.00
R7728:Tbc1d9	UTSW	8	83,985,979 (GRCm39)	missense	probably damaging	0.99
R7804:Tbc1d9	UTSW	8	83,963,341 (GRCm39)	missense	possibly damaging	0.85
R7978:Tbc1d9	UTSW	8	83,966,583 (GRCm39)	missense	probably damaging	0.98
R8150:Tbc1d9	UTSW	8	83,982,519 (GRCm39)	missense	probably damaging	1.00
R8325:Tbc1d9	UTSW	8	83,966,667 (GRCm39)	critical splice donor site	probably null
R8940:Tbc1d9	UTSW	8	83,981,452 (GRCm39)	missense	probably damaging	1.00
R8995:Tbc1d9	UTSW	8	83,998,180 (GRCm39)	missense	probably benign
R9075:Tbc1d9	UTSW	8	83,982,501 (GRCm39)	missense	probably benign	0.06
R9291:Tbc1d9	UTSW	8	83,987,750 (GRCm39)	missense	probably damaging	1.00
R9335:Tbc1d9	UTSW	8	83,937,160 (GRCm39)	missense	possibly damaging	0.86
R9749:Tbc1d9	UTSW	8	83,968,339 (GRCm39)	critical splice donor site	probably null
X0062:Tbc1d9	UTSW	8	83,960,331 (GRCm39)	missense	possibly damaging	0.79

Posted On

2016-08-02